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Unformatted text preview: IB35ac Human Biological Variation 10/18/2010 Copyright Prof. L.J. Hlusko 1 IB35 Human Biological Variation Class #16 Topics for today: Blood & Disease How disease has affected the pattern of human variation Topics for Today • Founders & affected phenotypes • Sickle cell anemia • ABO blood types Worldwide causes of death TB HIV Respiratory Infections Malaria Other infections Respiratory disease Digestive diseases Other diseases Injuries Other Cancer Diabetes Heart Disease Stroke disease What is a founder ? • A person who has a mutation that is then passed down through generations. Everyone with the mutation is related – they have it in common because they are they have it in common because they are “identical by descent”. What is an affected phenotype ? IB35ac Human Biological Variation 10/18/2010 Copyright Prof. L.J. Hlusko 2 Symptoms:-- abnormally shaped red blood cells local tissue death Sickle Cell Anemia-- local tissue death-- skin lesions infection-- episodes of excruciating pain-- greatly reduced lifespan What causes RBCs to sickle? Missense mutation = abnormal hemoglobin HbS hemoglobin What causes RBCs to sickle? crystallizes into long rods within RBCs when deoxygenated. How is sickle cell anemia inherited?...
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- Spring '08
- Sickle cell anemia, human biological variation